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1 sible for SPG3A, a common autosomal dominant hereditary spastic paraplegia.
2 trate the first causal treatment strategy in hereditary spastic paraplegia.
3 sin heavy chain gene KIF5A, in a family with hereditary spastic paraplegia.
4 rious species leads to phenotypes resembling hereditary spastic paraplegia.
5 of Friedreich's ataxia, Wilson's disease and hereditary spastic paraplegia.
6 rotein spastin, is the chief gene mutated in hereditary spastic paraplegia.
7 uld be a good model system for understanding hereditary spastic paraplegia.
8 nd is considered the most frequent metabolic hereditary spastic paraplegia.
9 ron features, consistent with a diagnosis of hereditary spastic paraplegia.
10 teins lead to motor neuron diseases, such as hereditary spastic paraplegia.
11 protein spastin are the most common cause of hereditary spastic paraplegia.
12 spartin, the human gene mutated in a form of hereditary spastic paraplegia.
13 Spastin is mutated in the axonopathy hereditary spastic paraplegia.
14 e forms of amyotrophic lateral sclerosis and hereditary spastic paraplegia.
15 ptoms, which define a diverse set of complex hereditary spastic paraplegias.
16 , non-sense and splice-site) associated with hereditary spastic paraplegia 4 (HSP-SPG4) (SPG4:OMIM#18
17 ome (8q22-q23), Klip-Feil syndrome (8q22.2), hereditary spastic paraplegia (8q24), and benign adult f
18 araplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous gr
19 gly been associated with various subtypes of hereditary spastic paraplegia, a highly heterogeneous gr
20 oducts have been identified in patients with hereditary spastic paraplegias, a diverse group of neuro
21 NT1, a gene encoding a later step, result in hereditary spastic paraplegia accompanied by intellectua
24 ion of families with autosomal dominant pure hereditary spastic paraplegia (ADPHSP), to examine the r
25 neurodegeneration: many candidate genes for hereditary spastic paraplegia also have central roles in
27 is mutated in genetic neurological diseases (hereditary spastic paraplegia and cerebellar ataxia).
29 levant for patients suffering from SPG4-type hereditary spastic paraplegia and explain why single ami
30 can result in neurological disorders such as hereditary spastic paraplegia and hereditary sensory neu
31 lateral sclerosis, infantile-onset ascending hereditary spastic paraplegia and juvenile primary later
32 uron disease: amyotrophic lateral sclerosis, hereditary spastic paraplegia and spinal muscular atroph
33 atients with rare movement disorders such as hereditary spastic paraplegias and cerebellar ataxias re
34 ase of the bone and frontotemporal dementia, hereditary spastic paraplegia, and 1-2% of familial amyo
35 entations with spastic paraparesis mimicking hereditary spastic paraplegia, and a multiple sclerosis-
36 on's disease, amyotrophic lateral sclerosis, hereditary spastic paraplegia, and cerebellar degenerati
37 Strumpellin is mutated in the human disease hereditary spastic paraplegia, and its link to WASH sugg
38 A1, mutated in the neurodegenerative disease hereditary spastic paraplegia, and of ichthyin, mutated
39 ensory and autonomic neuropathy, complicated hereditary spastic paraplegia, and select hereditary met
40 stin, the most common locus for mutations in hereditary spastic paraplegias, and katanin are related
47 e cerebellar ataxias and autosomal recessive hereditary spastic paraplegias (ARHSPs) are clinically a
48 lies with autosomal dominant pure or complex hereditary spastic paraplegia, as well as in two sporadi
49 on, best classified as a complicated form of hereditary spastic paraplegia, associated with mutation
50 mutations in NTE have been shown to cause a Hereditary Spastic Paraplegia called NTE-related Motor-N
51 n [spastic gait (SPG)1 to -57], over half of hereditary spastic paraplegia cases are caused by pathog
52 Troyer syndrome is an autosomal recessive hereditary spastic paraplegia caused by mutation in the
54 in neurological disorders, particularly the hereditary spastic paraplegias, emphasizing the importan
59 that the two most common autosomal recessive hereditary spastic paraplegia gene products, the SPG15 p
61 in several neuromuscular diseases including hereditary spastic paraplegia, hereditary sensory neurop
62 Kif5A, result in similar problems that cause hereditary spastic paraplegia (HSP) and Charcot-Marie-To
63 disorders of upper and lower motor neurons, hereditary spastic paraplegia (HSP) and distal hereditar
64 ent form of autosomal recessive (AR) complex hereditary spastic paraplegia (HSP) and juvenile onset a
67 Troyer syndrome is an autosomal recessive hereditary spastic paraplegia (HSP) caused by frameshift
77 (TRS) is an autosomal recessive complicated hereditary spastic paraplegia (HSP) that occurs with hig
79 in any of its four subunits cause a form of hereditary spastic paraplegia (HSP) with intellectual di
80 ions in spastin, strumpellin, or REEP1 cause hereditary spastic paraplegia (HSP), a disease character
81 implicated in an autosomal dominant form of hereditary spastic paraplegia (HSP), a motor-neurologica
82 ding to spastin are the most common cause of hereditary spastic paraplegia (HSP), a neurodegenerative
83 in ATL cause an unbranched ER morphology and hereditary spastic paraplegia (HSP), a neurodegenerative
84 e been identified in patients suffering from hereditary spastic paraplegia (HSP), a neurodegenerative
86 he AP-5 complex, have been reported to cause hereditary spastic paraplegia (HSP), although their impa
87 cular Atrophy (SMA), Multiple Sclerosis (MS) Hereditary Spastic Paraplegia (HSP), and Huntington's Di
88 ted in Charcot-Marie-Tooth disease (CMT) and Hereditary Spastic Paraplegia (HSP), but the mechanism o
118 early-onset form of pure, autosomal dominant hereditary spastic paraplegia is caused by mutation in t
119 The most common form of autosomal recessive hereditary spastic paraplegia is caused by mutations in
123 logy of SPG10 and possibly of other forms of hereditary spastic paraplegia may involve perturbation o
124 t glutamylation is the main regulator of the hereditary spastic paraplegia microtubule severing enzym
125 ective strain produces similar phenotypes of hereditary spastic paraplegia (mitochondrial dysfunction
126 ctural and functional defects of an atypical hereditary spastic paraplegia mutant, ATL1-F151S, that i
127 providing new insights into the pathology of hereditary spastic paraplegia, particularly how mutation
128 matography in the clinico-genetic work-up of hereditary spastic paraplegia, particularly in dominant
131 ost commonly classified as a complex form of hereditary spastic paraplegia, present in families from
132 s is the first demonstration of a role for a hereditary spastic paraplegia protein or ichthyin family
133 Susceptibility Gene2) and Bhlhb5 (mutated in Hereditary Spastic Paraplegia), providing a molecular ha
135 ase mutated in the neurodegenerative disease hereditary spastic paraplegia, severs microtubules.
139 tual disability syndrome, and three forms of hereditary spastic paraplegia, SPG11, SPG15 and SPG49 ca
140 DHD1 and DDHD2 genes cause specific types of hereditary spastic paraplegia (SPG28 and SPG54, respecti
141 tions have been identified in both a form of hereditary spastic paraplegia (SPG35) and a progressive
143 pathway, and implies disease mechanisms for hereditary spastic paraplegia that involve dependence of
145 atlastin-1 mutations cause a common form of hereditary spastic paraplegia, we suggest ER-shaping def
146 n (SPG4) cause an autosomal dominant form of hereditary spastic paraplegia, which is a retrograde axo
147 ALDH18A1 mutations, and predominant complex hereditary spastic paraplegia with marked cognitive impa
148 are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum
149 for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum
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